Properdin deficiency

Orpha code: 2966OMIM code: 312060

Definition

Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.

Disease data
Classification

Disease

ORPHA code
2966
OMIM code
312060
ICD10 code
D84.1
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl